ClinVar Miner

List of variants in gene OTOGL reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.6864A>G (p.Ile2288Met) rs145876584 0.00029
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala) rs774797627 0.00006
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_001378609.3(OTOGL):c.1890-1G>T rs777911261 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.